Neonatal spinal muscular atrophy with multiple contractures, bone fractures, respiratory insufficiency and 5q13 deletion.
D002895:Chromosomes, Human, Pair 5; D003286:Contracture / Q000209:etiology*; D017362:Cyclic AMP Response Element-Binding Protein; D004252:DNA Mutational Analysis; D050723:Fractures, Bone / Q000209:etiology; D017353:Gene Deletion; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D016601:RNA-Binding Proteins; D012131:Respiratory Insufficiency / Q000209:etiology*; D055532:SMN Complex Proteins; D013116:Spinal Cord / Q000473:pathology; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications* / Q000235:genetics*; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein
D017362:Cyclic AMP Response Element-Binding Protein; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; D055532:SMN Complex Proteins; C526471:SMN1 protein, human; C526477:SMN2 protein, human; D055533:Survival of Motor Neuron 1 Protein; D055540:Survival of Motor Neuron 2 Protein